Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_032980 | Disease | p.ARG476CYS | Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) |
dbSNP | rs699664 | Polymorphism | p.ARG325GLN | N/A |
Swiss-Prot | VAR_032981 | Disease | p.ARG476HIS | Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) |
Swiss-Prot | VAR_021826 | Disease | p.ARG485PRO | Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) |
Swiss-Prot | VAR_032983 | Disease | p.GLY558ARG | Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) |
Swiss-Prot | VAR_005781 | Disease | p.LEU394ARG | Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) |
Swiss-Prot | VAR_032979 | Disease | p.PHE299SER | Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) |
Swiss-Prot | VAR_032982 | Disease | p.TRP493SER | Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) |
Swiss-Prot | VAR_015218 | Disease | p.TRP501SER | Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) |
OMIM | 137167.0010 | Disease | p.ARG476CYS | PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY |
OMIM | 137167.0011 | Disease | p.ARG476HIS | PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY |
OMIM | 137167.0003 | Disease | p.ARG485PRO | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 |
OMIM | 137167.0008 | Disease | p.GLN374TER | PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY |
OMIM | 137167.0006 | Disease | p.GLY558ARG | PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY |
OMIM | 137167.0009 | Disease | p.GLY537TYR | PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY |
OMIM | 137167.0001 | Disease | p.LEU394ARG | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 |
OMIM | 137167.0005 | Disease | p.PHE299SER | PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY |
OMIM | 137167.0013 | Disease | p.SER300PHE | PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY |
OMIM | 137167.0007 | Disease | p.TRP493SER | PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY |
OMIM | 137167.0002 | Disease | p.TRP501SER | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 |
OMIM | 137167.0012 | Disease | p.VAL255MET | PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY |